GEMIN2 Gene Summary [Human]
This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | GEMIN2 |
| Official Name | gem nuclear organelle associated protein 2 [Source:HGNC Symbol;Acc:HGNC:10884] |
| Ensembl ID | ENSG00000092208 |
| Bio databases IDs | |
| Aliases | gem nuclear organelle associated protein 2 |
| Synonyms | gem (nuclear organelle) associated protein 2, gem nuclear organelle associated protein 2, SIP1, SIP1-delta, SIP1-δ, TLS-ASSOCIATED SERINE ARGININE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GEMIN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Survival motor neuron (SMN) interacting protein 1 (SIP1)
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Waldenström macroglobulinemia
- spinal muscular atrophy
- amyotrophic lateral sclerosis
- neurodegeneration
- infection by HIV-1
role in cell
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- intracellular space
- cytosol
- gems
- nucleoplasm
- nucleoli
- nuclear bodies
- coiled body
- Cajal bodies
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GEMIN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing, via transesterification reactions
- RNA splicing
- mRNA processing
- spliceosomal complex assembly
- spliceosomal snRNP assembly
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- SMN-Sm protein complex
- spliceosomal complex
- cytosol
- nucleolus
- SMN complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding